SMAD, mothers against DPP homolog 6 (Drosophila), isoform CRA_b [Homo - Protein

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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis. [J Med Genet. 2024]
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Luyckx I, Walton IS, Boeckx N, Van Schil K, Pang C, De Praeter M, Lord H, Watson CM, Bonthron DT, Van Laer L, et al. J Med Genet. 2024 Mar 21; 61(4):363-368. Epub 2024 Mar 21.
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis. [Mol Genet Genomic Med. 2022]
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y. Mol Genet Genomic Med. 2022 Jan; 10(1):e1850. Epub 2021 Dec 24.
SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis. [Angiogenesis. 2021]
SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis.
Ruter DL, Liu Z, Ngo KM, X S, Marvin A, Buglak DB, Kidder EJ, Bautch VL. Angiogenesis. 2021 May; 24(2):387-398. Epub 2021 Mar 29.

RefSeq genomic sequence
See the genomic reference sequence for the SMAD6 gene (NG_012244.2).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the SMAD6 gene.

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